Table 1.

Real-time mCOP-PCR versus PCR–restriction fragment length polymorphism (PCR–RFLP) for the detection of SMN1 deletion.

	PCR–RFLP (Fresh Blood)		Total
	SMN1(–)	SMN1(+)
Real-time mCOP-PCR (DBS)
SMN1(–)	50	0	50
SMN1(+)	0	50	50
Total	50	50	100

Sensitivity: 1.00 (95% CI 0.96–1.00); specificity: 1.00 (95% CI 0.96–1.00).